Early data shows Eteplirsen tolerated safely in young infant with Duchenne

Muscular Dystrophy News Today report in their article that ‘Exondys 51’ (‘Eteplirsen’ in the UK), was according to preliminary data,  safe and well tolerated by a very young infant living with Duchenne muscular dystrophy.

Eteplirsen is for people living with Duchenne, amenable to skipping Exon 51; the drug had previously only been given to children who were at least four years old. Researchers at the University of Louisville reviewed the case of a 10 month old infant who had been treated with the drug:

“With availability of Eteplirsen commercially, early diagnosis and therapy initiation for pre-symptomatic patients would theoretically afford benefit in delaying symptoms and preserving ambulation,” the researchers wrote.

The infant had a history of Duchenne muscular dystrophy in the family and so was tested for elevated creatine kinase levels at 5 months of age; these were indeed higher than normal and genetic testing confirmed a diagnosis of Duchenne.

After six months of receiving Eteplirsen the child had almost two-times less creatine kinase than before treatment. Vital signs were normal and remained stable.

The results showed that treatment with Eteplirse had so far not caused any adverse effects and that it was well tolerated. The researchers continued: “Effect of early therapy on efficacy will be determined based on continued longitudinal follow up…”

Further reading

• Research we are funding now

• Exon Skipping as a potential therapy

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